Canonical Allele Identifier: CA405392014
Gene: NPHS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.36333144C>G (hg19) chr19:g.35842242C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35842242C>G , CM000681.2:g.35842242C>G GRCh38
NC_000019.9:g.36333144C>G , CM000681.1:g.36333144C>G GRCh37
NC_000019.8:g.41024984C>G NCBI36
NG_013356.2:g.32046G>C , LRG_693:g.32046G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.2545G>C MANE Select ENSP00000368190.4:p.Val849Leu
ENST00000353632.6:c.2545G>C ENSP00000343634.5:p.Val849Leu
ENST00000378910.9:c.2545G>C ENSP00000368190.4:p.Val849Leu
NM_004646.3:c.2545G>C , LRG_693t1:c.2545G>C NP_004637.1:p.Val849Leu
NM_004646.4:c.2545G>C MANE Select NP_004637.1:p.Val849Leu
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